-
2
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
-
Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Gen 1994;8:136-40
-
(1994)
Nat Gen
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
-
3
-
-
84866840027
-
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
-
Zimon M, Baets J, Almeida-Souza L, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Gen 2012;44: 1080-83
-
(2012)
Nat Gen
, vol.44
, pp. 1080-1083
-
-
Zimon, M.1
Baets, J.2
Almeida-Souza, L.3
-
4
-
-
84891593253
-
Autosomal recessive axonal neuropathy with neuromyotonia: A rare entity
-
Caetano JS, Costa C, Baets J, et al. Autosomal recessive axonal neuropathy with neuromyotonia: A rare entity. Pediatr Neurol 2014;50: 104-7
-
(2014)
Pediatr Neurol
, vol.50
, pp. 104-107
-
-
Caetano, J.S.1
Costa, C.2
Baets, J.3
-
5
-
-
84901035232
-
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy [published online ahead of print October 9 2013]
-
doi: 10.1038/ejhg.2013.231
-
Zhao H, Race V, Matthijs G, et al. Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy [published online ahead of print October 9, 2013]. Eur J Hum Gen. doi: 10.1038/ejhg.2013.231.
-
Eur J Hum Gen
-
-
Zhao, H.1
Race, V.2
Matthijs, G.3
-
7
-
-
0037934419
-
Deletion of histidine triad nucleotide-binding protein 1/PKC-interacting protein in mice enhances cell growth and carcinogenesis
-
Su T, Suzui M, Wang L, et al. Deletion of histidine triad nucleotide-binding protein 1/PKC-interacting protein in mice enhances cell growth and carcinogenesis. Proc Natl Acad Sci USA 2003;100: 7824-29
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 7824-7829
-
-
Su, T.1
Suzui, M.2
Wang, L.3
-
8
-
-
32244448801
-
Hint1 is a haplo-insufficient tumor suppressor in mice
-
Li H, Zhang Y, Su T, et al. Hint1 is a haplo-insufficient tumor suppressor in mice. Oncogene 2006;25:713-21
-
(2006)
Oncogene
, vol.25
, pp. 713-721
-
-
Li, H.1
Zhang, Y.2
Su, T.3
-
9
-
-
0039613985
-
Suppression of microphthalmia transcriptional activity by its association with protein kinase CYinteracting protein 1 in mast cells
-
Razin E, Zhang ZC, Nechushtan H, et al. Suppression of microphthalmia transcriptional activity by its association with protein kinase CYinteracting protein 1 in mast cells. J Biol Chem 1999;274:34272-76
-
(1999)
J Biol Chem
, vol.274
, pp. 34272-34276
-
-
Razin, E.1
Zhang, Z.C.2
Nechushtan, H.3
-
10
-
-
84878639592
-
Histidine triad nucleotide-binding protein 1 (HINT1) regulates Ca(2+) signaling in mouse fibroblasts and neuronal cells via store-operated Ca(2+) entry pathway
-
Linde CI, Feng B, Wang JB, et al. Histidine triad nucleotide-binding protein 1 (HINT1) regulates Ca(2+) signaling in mouse fibroblasts and neuronal cells via store-operated Ca(2+) entry pathway. Am J Physiol Cell Physiol 2013;304:C1098-104
-
(2013)
Am J Physiol Cell Physiol
, vol.304
-
-
Linde, C.I.1
Feng, B.2
Wang, J.B.3
-
11
-
-
0020169938
-
Mechanism of synthesis of adenosine(5¶)tetraphospho(5¶) adenosine (AppppA) by aminoacyl-tRNA synthetases
-
Goerlich O, Foeckler R, Holler E. Mechanism of synthesis of adenosine(5¶)tetraphospho(5¶)adenosine (AppppA) by aminoacyl-tRNA synthetases. Eur J Biochem 1982;126:135-42
-
(1982)
Eur J Biochem
, vol.126
, pp. 135-142
-
-
Goerlich, O.1
Foeckler, R.2
Holler, E.3
-
12
-
-
0038067742
-
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type v
-
Antonellis A, Ellsworth RE, Sambuughin N, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Gen 2003;72:1293-99
-
(2003)
Am J Hum Gen
, vol.72
, pp. 1293-1299
-
-
Antonellis, A.1
Ellsworth, R.E.2
Sambuughin, N.3
-
13
-
-
31744448271
-
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
-
Jordanova A, Irobi J, Thomas FP, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 2006;38:197-202
-
(2006)
Nat Genet
, vol.38
, pp. 197-202
-
-
Jordanova, A.1
Irobi, J.2
Thomas, F.P.3
-
14
-
-
73349114324
-
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease
-
Latour P, Thauvin-Robinet C, Baudelet-Mery C, et al. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Gen 2010;86:77-82
-
(2010)
Am J Hum Gen
, vol.86
, pp. 77-82
-
-
Latour, P.1
Thauvin-Robinet, C.2
Baudelet-Mery, C.3
-
15
-
-
33748545328
-
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model
-
Seburn KL, Nangle LA, Cox GA, et al. An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. Neuron 2006;51:715-26
-
(2006)
Neuron
, vol.51
, pp. 715-726
-
-
Seburn, K.L.1
Nangle, L.A.2
Cox, G.A.3
-
16
-
-
21444451106
-
Gait analysis detects early changes in transgenic SOD1(G93A) mice
-
Wooley CM, Sher RB, Kale A, et al. Gait analysis detects early changes in transgenic SOD1(G93A) mice. Muscle Nerve 2005;32:43-50
-
(2005)
Muscle Nerve
, vol.32
, pp. 43-50
-
-
Wooley, C.M.1
Sher, R.B.2
Kale, A.3
-
17
-
-
58149520161
-
Age, experience and genetic background influence treadmill walking in mice
-
Wooley CM, Xing S, Burgess RW, et al. Age, experience and genetic background influence treadmill walking in mice. Physiol Behav 2009;96: 350-61
-
(2009)
Physiol Behav
, vol.96
, pp. 350-361
-
-
Wooley, C.M.1
Xing, S.2
Burgess, R.W.3
-
19
-
-
84855289563
-
Charcot-Marie-ToothYlinked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels
-
Motley WW, Seburn KL, Nawaz MH, et al. Charcot-Marie-ToothYlinked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. PLoS Gen 2011;7:e1002399
-
(2011)
PLoS Gen
, vol.7
-
-
Motley, W.W.1
Seburn, K.L.2
Nawaz, M.H.3
-
20
-
-
79953283718
-
Increased anxiety-related behaviour in Hint1 knockout mice
-
Varadarajulu J, LebarM, Krishnamoorthy G, et al. Increased anxiety-related behaviour in Hint1 knockout mice. Behav Brain Res 2011;220:305-11
-
(2011)
Behav Brain Res
, vol.220
, pp. 305-311
-
-
Varadarajulu, J.1
Lebarm Krishnamoorthy, G.2
-
21
-
-
70349773389
-
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy
-
Achilli F, Bros-Facer V, Williams HP, et al. An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. Dis Models Mech 2009;2:359-73
-
(2009)
Dis Models Mech
, vol.2
, pp. 359-373
-
-
Achilli, F.1
Bros-Facer, V.2
Williams, H.P.3
-
22
-
-
0030724815
-
Hereditary neuromyotonia: A mouse model associated with deficiency or increased gene dosage of the PMP22 gene
-
Toyka KV, Zielasek J, Ricker K, et al. Hereditary neuromyotonia: A mouse model associated with deficiency or increased gene dosage of the PMP22 gene. J Neurol Neurosurg Psychiatry 1997;63:812-13
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.63
, pp. 812-813
-
-
Toyka, K.V.1
Zielasek, J.2
Ricker, K.3
-
23
-
-
0033554303
-
Nerve conduction abnormalities and neuromyotonia in genetically engineered mouse models of human hereditary neuropathies
-
Zielasek J, Toyka KV. Nerve conduction abnormalities and neuromyotonia in genetically engineered mouse models of human hereditary neuropathies. Ann NY Acad Sci 1999;883:310-20
-
(1999)
Ann NY Acad Sci
, vol.883
, pp. 310-320
-
-
Zielasek, J.1
Toyka, K.V.2
-
24
-
-
0034020892
-
Neuromyotonia in mice with hereditary myelinopathies
-
Zielasek J, Martini R, Suter U, et al. Neuromyotonia in mice with hereditary myelinopathies. Muscle Nerve 2000;23:696-701
-
(2000)
Muscle Nerve
, vol.23
, pp. 696-701
-
-
Zielasek, J.1
Martini, R.2
Suter, U.3
-
25
-
-
46249110939
-
A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination
-
Patton BL, Wang B, Tarumi YS, et al. A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination. J Cell Sci 2008;121:1593-604
-
(2008)
J Cell Sci
, vol.121
, pp. 1593-1604
-
-
Patton, B.L.1
Wang, B.2
Tarumi, Y.S.3
-
26
-
-
0028882747
-
Acquired neuromyotonia: Evidence for autoantibodies directed against K+ channels of peripheral nerves
-
Shillito P, Molenaar PC, Vincent A, et al. Acquired neuromyotonia: Evidence for autoantibodies directed against K+ channels of peripheral nerves. Ann Neurol 1995;38:714-22
-
(1995)
Ann Neurol
, vol.38
, pp. 714-722
-
-
Shillito, P.1
Molenaar, P.C.2
Vincent, A.3
-
27
-
-
84862128116
-
Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature
-
Brunetti O, Imbrici P, Botti FM, et al. Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature. Neurobiol Dis 2012;47:310-21
-
(2012)
Neurobiol Dis
, vol.47
, pp. 310-321
-
-
Brunetti, O.1
Imbrici, P.2
Botti, F.M.3
-
28
-
-
84860261116
-
A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking
-
Bangratz M, Sarrazin N, Devaux J, et al. A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking. Am J Pathol 2012;180: 2040-55
-
(2012)
Am J Pathol
, vol.180
, pp. 2040-2055
-
-
Bangratz, M.1
Sarrazin, N.2
Devaux, J.3
-
29
-
-
53449089265
-
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia
-
Stum M, Girard E, Bangratz M, et al. Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. Hum Mol Gen 2008;17:3166-79
-
(2008)
Hum Mol Gen
, vol.17
, pp. 3166-3179
-
-
Stum, M.1
Girard, E.2
Bangratz, M.3
-
30
-
-
84862303538
-
Side chain independent recognition of aminoacyl adenylates by the Hint1 transcription suppressor.
-
Wang J, Fang P, Schimmel P, et al. Side chain independent recognition of aminoacyl adenylates by the Hint1 transcription suppressor. J Phys Chem B 2012;116:6798-805
-
(2012)
J Phys Chem B
, vol.116
, pp. 6798-6805
-
-
Wang, J.1
Fang, P.2
Schimmel, P.3
-
31
-
-
0037192795
-
Adenosine monophosphoramidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3
-
Bieganowski P, Garrison PN, Hodawadekar SC, et al. Adenosine monophosphoramidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3. J Biol Chem 2002;277:10852-60
-
(2002)
J Biol Chem
, vol.277
, pp. 10852-10860
-
-
Bieganowski, P.1
Garrison, P.N.2
Hodawadekar, S.C.3
|